rs2633306

Variant names:

• chr10-73892689-A-C
• rs2633306

Your query was ambiguous. Multiple possible variants found:

• chr10-73892689-A-C
• chr10-73892689-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.701 in 152,084 control chromosomes in the GnomAD database, including 37,992 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.70 (37992 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0320

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.741 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.701 AC: 106506 AN: 151964 Hom.: 37968 Cov.: 32

Gnomad AFR AF: 0.717

Gnomad AMI AF: 0.687

Gnomad AMR AF: 0.584

Gnomad ASJ AF: 0.882

Gnomad EAS AF: 0.424

Gnomad SAS AF: 0.592

Gnomad FIN AF: 0.625

Gnomad MID AF: 0.845

Gnomad NFE AF: 0.747

Gnomad OTH AF: 0.753

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.701 AC: 106568 AN: 152084 Hom.: 37992 Cov.: 32 AF XY: 0.691 AC XY: 51375 AN XY: 74322

Gnomad4 AFR AF: 0.717

Gnomad4 AMR AF: 0.583

Gnomad4 ASJ AF: 0.882

Gnomad4 EAS AF: 0.425

Gnomad4 SAS AF: 0.592

Gnomad4 FIN AF: 0.625

Gnomad4 NFE AF: 0.747

Gnomad4 OTH AF: 0.746

Alfa AF: 0.675 Hom.: 10027

Bravo AF: 0.700

Asia WGS AF: 0.488 AC: 1699 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.2
DANN	Benign	0.38

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs2633306; hg19: chr10-75652447;